摘要
目的：了解海南地区非综合征遗传性耳聋的四个常见基因突变情况。方法采用晶芯九项遗传性耳聋基因芯片检测试剂盒、微阵列芯片扫描仪及相应的遗传性耳聋基因芯片判别系统进行检测分析。结果429例临床标本中，共检出55例携带致聋突变，阳性率为12.82％。其中，5例（1.17％）线粒体DNA 12S rRNA突变，包括1555 A＞G均质突变4例，1494 C＞T均质突变1例；GJB2基因突变25例（5.83％），其中包括235 del C纯合突变9例，235 del C/GJB2299 del AT复合杂合突变2例，235 del C单杂合突变10例，176 del 16单杂合突变4例；22例（5.13％）SLC26A4基因突变，包括IVS7-2A＞G纯合突变4例，2168 A＞G纯合突变1例，IVS7-2A＞G单杂合突变12例，2168 A＞G单杂合突变5例；3例（0.70％）GJB3基因突变，均为538 C＞T单杂合突变。在SLC26A4基因突变阳性的22例中，有4例临床诊断为双侧大前庭水管综合征，其基因突变型分别为3例 SLC26 A4基因 IVS7-2 A＞G纯合突变，1例 SLC26 A4基因2168 A＞G纯合突变。结论海南地区非综合征遗传性耳聋以 GJB2基因突变和 SLC26A4基因突变为主要耳聋突变基因。
Objective To investigate the mutation screening of the GJB3,GJB2,mtDNA 1555 A〉G and SLC26A4 gene in Hainan Pronive population with non-syndromic hearing impairment.Methods PCR were performed with one pair of primer in the coding sequence of GJB3,GJB2,mtDNA 1555 A〉G and SLC26A4 gene.Bidirectional sequencing of PCR products was subsequently applied in 429 patients with hearing loss.Results 55 patients gene mutation of 429 patients were found. The point mutation in mtDNA was found in 5 patients （1.1 7%）.1 5 5 5 A〉G mutation of mtDNA was found in 4 patients. 1494 C〉T mutation of mtDNA was found in one patients.GJB2 gene mutation was found in 25 patients （5.83%）.235 del C mutation of GJB2 gene was found in 9 patients.235 del C/GJB2 299 del AT mutation was found in two patients.235 del C mutation was found in 10 patients.176 del 16 mutation was found in 4 patients.SLC26A4 mutation was found in 22 patients （5.13%）.IVS7-2 A〉G mutation of SLC26A4 was found in 4 patients.2168 A〉G mutation of SLC26A4 was found in one patient.IVS7-2 A〉G mutation was found in 12 patients.2168 A〉G mutation was found in 5 patients.538 C〉T mutation of G JB3 gene was found in 3 patient.IVS7-2A〉G mutation and 2168 A〉G muation of SLC26A4 gene was found in 4 of 22 EVA patients.Conclusion GJB2 gene and SLC26A4 gene have revealed responsible genes for Hainan deafness patients.
出处
《现代检验医学杂志》
CAS
2014年第5期34-37,共4页
Journal of Modern Laboratory Medicine
基金
海南省重点科技计划项目（SQ2014ZDXM0110）.
